Dent disease combined with renal cystic disease: report of one case and review of the literature

  • 张宏文,苏白鸽,徐可,等
Expand
  • Department of Paediatrics, Peking University First Hospital, Beijing 100034, China

Online published: 2019-02-26

Abstract

Objective To explore the possible mechanism in childhood Dent disease combined with renal cystic disease. Methods Clinical data were collected and analyzed from 1 childhood Dent disease cases combined with renal cystic disease. Results The case presented with nephrotic level low-molecular weight proteinuria, hypercalciuria, progressive renal failure, multiple cysts in both kidney and hypopotassemia. Renal biopsy showed focal segmental glomerulosclerosis combined with tubulointerstitial damage. Gene mutation analysis showed a hemizygous mutation (c.1975delC, p.R659Gfs*7) in CLCN5 gene, and no positive result on nephronophthisis related genes was found. Conclusions Dent disease combined with renal cystic disease is a rare phenomenon, with reasons unknown.

Cite this article

张宏文,苏白鸽,徐可,等 . Dent disease combined with renal cystic disease: report of one case and review of the literature[J]. Journal of Clinical Pediatrics, 2019 , 37(2) : 141 . DOI: 10.3969/j.issn.1000-3606.2019.02.016

Outlines

/